720950009: Familial thrombocytosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count above reference range\Thrombocytosis\Familial thrombocytosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Platelet count above reference range\Thrombocytosis\Familial thrombocytosis
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count above reference range\Thrombocytosis\Familial thrombocytosis
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count above reference range\Thrombocytosis\Familial thrombocytosis
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet finding\Thrombocytosis\Familial thrombocytosis

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Familial thrombocytosis

\Platelet disorder\Inherited platelet disorder\Familial thrombocytosis
\Platelet disorder\Thrombocytosis\Familial thrombocytosis

\Functional finding\Disorder of haemostatic system\Platelet disorder\...

\Inherited platelet disorder\Familial thrombocytosis

\Thrombocytosis\Familial thrombocytosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Familial thrombocytosis
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Familial thrombocytosis
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Familial thrombocytosis
\Disease\Blood disease\Platelet disorder\Thrombocytosis\Familial thrombocytosis
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Familial thrombocytosis
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytosis\Familial thrombocytosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Familial thrombocytosis

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322607010 Familial thrombocytosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322608017 Familial thrombocytosis en Synonym Active Case insensitive SNOMED CT core

3322609013 Familial thrombocythemia en Synonym Active Case insensitive SNOMED CT core

3322610015 Hereditary thrombocythaemia en Synonym Active Case insensitive SNOMED CT core

3322611016 Hereditary thrombocythemia en Synonym Active Case insensitive SNOMED CT core

3322612011 Familial thrombocythaemia en Synonym Active Case insensitive SNOMED CT core

3322613018 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). en Definition Active Case sensitive SNOMED CT core

3322614012 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial thrombocytosis	Interprets	Haemostatic function	false	Inferred relationship	Some	2
Familial thrombocytosis	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Familial thrombocytosis	Interprets	Haemostatic function	true	Inferred relationship	Some	2
Familial thrombocytosis	Is a	Thrombocytosis	true	Inferred relationship	Some
Familial thrombocytosis	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Familial thrombocytosis	Finding site	Body system structure	true	Inferred relationship	Some	3
Familial thrombocytosis	Has definitional manifestation	Platelet count above reference range	false	Inferred relationship	Some
Familial thrombocytosis	Interprets	Platelet count	true	Inferred relationship	Some	1
Familial thrombocytosis	Has interpretation	Above reference range	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322607010	Familial thrombocytosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322608017	Familial thrombocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3322609013	Familial thrombocythemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322610015	Hereditary thrombocythaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322611016	Hereditary thrombocythemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322612011	Familial thrombocythaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3322613018	A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).	en	Definition	Active	Case sensitive	SNOMED CT core
3322614012	A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).	en	Definition	Active	Case sensitive	SNOMED CT core